Background: pathogen heterogeneity and complexity are the main obstacles for schizophrenia and autism spectrum disorders (ASD) differential diagnosis in children. The role of oxidative stress in the molecular mechanisms of schizophrenia and autism pathogenesis is beyond doubt. Free radicals that accumulate during stress can cause oxidative modifications and the formation of breaks in the сell-free DNA (cfDNA) and nuclear DNA of blood cells. To date, it has been proven that 8-hydroxy-2’- deoxyguanosine (8-OHdG) can be considered as an oxidative stress biomarker. However, it is still unclear how pronounced the genotoxic consequences of oxidative stress are in ASD of varying severity and in childhood onset schizophrenia (COS). Objective: to study the relationship between the oxidative DNA damage level in peripheral blood cells and the circulating cell-free DNA characteristics with the severity of COS and the course of ASD in children. Patients and methods: blood samples of 96 patients with childhood autism (CA — F84.0 according to ICD-10), atypical autism (AA — F84.1 according to ICD-10) and with childhood onset schizophrenia (COS — F20.8 according to ICD-10) were obtained from the Child Psychiatry Department of the Mental health research center. Blood samples of the control group (34 people) — from the collection of samples of the Research Centre for medical Genetics. The selection of patients was carried out using the clinical and psychopathological method. Cell-free DNA was isolated by extraction with organic solvents. The concentration of cfDNA was determined fluorimetrically. The level of 8-OHdG in cell-free DNA was determined by binding of the corresponding antibodies on membrane filters, endonuclease activity was determined by radial diffusion in a gel. G0-peripheral blood lymphocytes were isolated by gradient centrifugation. The level of 8-OHdG and the level of the phosphorylated form of histone H2AX (yH2AX) in G0-peripheral blood lymphocytes were analyzed in fixed cells by flow cytofluorometry using appropriate antibodies. Statistical processing was carried out using Microsoft Office Excel, Statistica 6.0, StatGraph. Results and conclusions: oxidative stress has different severity in ASD, occurring in severe form (AA) and mild/moderate form (CA). In CA, the level of oxidative damage to the DNA of lymphocytes tends to increase, but does not reach statistically significant level; the level of oxidative damage to cfDNA does not differ from the control. In AA and, to an even stronger extent, in COS, the level of oxidative damage to the DNA of cells and cfDNA is significantly increased, which indicates the development of systemic oxidative stress, which is not compensated by the body’s antioxidant system. The level of 8-OHdG in the composition of the cfDNA and DNA of the nuclei of peripheral blood cells can be a marker of oxidative stress, which is important not only for diagnosing the severity of the pathological process, but also for treatment regimens development for COS and ASD in children.

Objective: recently, much attention has been paid to the problem of autism spectrum disorders (ASD) in childhood. Despite the abundance of psychometric approaches to the diagnosis of autism in childhood, questions remain about the validity of their use in everyday practice. In recent years, works began to appear in the United States calling into question the practice of mandatory use of the “gold standard” methods for diagnosing ASD. Russia has many years of experience in multidisciplinary cooperation of medical psychologists and clinicians in child psychiatric practice, which makes it possible to more accurately determine the depth and severity of autistic manifestations, as well as to determine the dynamics of a child’s development, which will make it possible to provide targeted effective assistance. Aim: to develop diagnostic, clinical-psychopathological, psychological approaches to the diagnosis of autism spectrum disorders in childhood.Patients and methods: the sample consists of 254 patients aged 4–17 years (average age 7.3 years) with different forms of ASD according to ICD-10 (heading F84). The patients were examined by clinical-psychopathological, clinical-dynamic, clinical-follow-up, psychological methods.Results: the study made it possible to define the profiles of six main forms of ASD from a clinical and psychological standpoint: Asperger’s syndrome (F84.5); childhood autism dysontogenetic (F84.0); childhood psychosis (F84.02); Kanner’s syndrome (F84.01), syndromic atypical autism (F84.11),and atypical childhood psychosis (F84.12).Conclusion: the results obtained are presented in a multidisciplinary aspect, which allows the most accurately diagnose one form or another of autism spectrum disorders and to develop personalized routes of patient management.

Introduction: Differential diagnostics of early-onset schizophrenia and autism spectrum disorders (ASD) are a problem of child psychiatry. The prognosis and relevant treatment are to a large degree determined by the correctness of diagnosis. We found earlier that leucocyte DNA of adult schizophrenia patients contained significantly larger copy numbers of ribosomal repeats (rDNA) coding for rRNA, than DNA of mentally healthy controls. Aim: To compare the contents of ribosomal repeats in the leucocyte DNA of children with schizophrenia, children with ASD, and healthy age-matched controls to estimate the possibility of using this genetic trait in the differential diagnostics of the two types of disorders. Patients and methods: Blood samples of patients with infantile autism (A—F84.0 according to ICD-10, N = 75) and with childhood-onset schizophrenia (SZ—F20.8 according to ICD-10, N = 43) were obtained from the Child Psychiatry Department of the Mental Health Research Center. The healthy control blood samples (HC, N = 86) were taken from the Research Centre for Medical Genetics collection. The recruitment of cases was based on the clinical psychopathologic approach. DNA was extracted from blood leukocytes with organic solvents. Nonradioactive quantitative hybridization technique was applied for determining the abundance of ribosomal repeats in the genomes. Statistical processing was performed using StatPlus, Statgraphics and MedCalc. Findings: DNA derived from SZ cases contained 565 ± 163 rDNA copies, which is significantly (p < 10⁻⁶) higher than the rDNA content in ASD cases (405 ± 109 copies) and controls (403 ± 86 copies). The HC and A groups did not differ by rDNA copy number (p > 0.4). The genetic trait “rDNA copy number in patient’s genome” can potentially be applied as an additional marker in differential diagnostics of childhood-onset schizophrenia and autism spectrum disorders.

Гиперкоагуляция плазмы крови со спонтанными сгустками как биологический маркер степени выраженности психических расстройств

ЦЕЛЬ ИССЛЕДОВАНИЯ Изучить нарушения пищевого поведения (НПП) при различных вариантах расстройств аутистического спектра (РАС) для определения прогноза и терапевтической тактики. МАТЕРИАЛ И МЕТОДЫ Обследовали 180 пациентов (110 девочек, 70 мальчиков) в возрасте от 2 до 5 лет (средний — 4 года) с диагнозами «Детский аутизм» (F84.02), «Атипичный аутизм» (F84.1), «Синдром Аспергера» (F84.5) и наличием НПП. РЕЗУЛЬТАТЫ Выделены три клинических варианта РАС, сопровождающиеся НПП: кататоно-регрессивный (n=75 (41%)), кататонический (n=81 (45%)) и гипердинамический (n=24 (13%)). Наиболее выражены НПП были при кататоно-регрессивном варианте, а наименее — при гипердинамическом варианте РАС. Выраженность НПП имеет связь с выраженностью когнитивного дизонтогенеза. ЗАКЛЮЧЕНИЕ Особенности НПП связаны с ведущим клиническим синдромом РАС и видом когнитивного дизонтогенеза. Выраженность кататонии и регресса влияют на тяжесть НПП, которые в свою очередь приводят к вторичным соматическим расстройствам. В лечебной работе для успешной реабилитации и профилактики соматических осложнений необходимо участие специалистов различных профилей.

To reveal paired and partial correlations of values of neuro-immuno-test and thrombodynamics test in children with childhood autism and schizophrenia in childhood in a state of exacerbation. The study used a database of children with childhood autism, obtained by us in 2028-2019. The study included 46 patients with childhood autism (CA) aged 2 to 13 years: median age [Q1; Q3] - 5 years [4; 7], 10 girls (22%) and 36 boys (78%)). The thrombodynamics test (TD) was performed on a T-2 thrombodynamics analyzer according to the manufacturer's instructions. It was shown that there is a statistically significant positive correlation (R=0.369, p=0.018) between the acquired immunity parameter: the level of serum antibodies to myelin basic protein (BMP): abBMP parameter, and the main parameter of platelet hemostasis - the time of appearance of spontaneous clots (Tsp). It can be assumed that autoantibodies to BMP block the procoagulant effect of myelin basic protein and thus have an anticoagulant effect. However, this analysis did not take into account the possible effects of other parameter of the neuro-immuno-test and thrombodynamics test. Therefore, when studying the correlation of specific parameters of the neuro-immuno-test and thrombodynamics, it is necessary to take into account the possible modifying effect of other parameters of these tests. It was shown that after subtracting the influence on the main correlation (abBMP & Tsp) of individual thrombodynamic parameters (Vi, V and D), as well as their total influence, the partial correlations become statistically insignificant. This indicates that these TD parameters can, individually or in total, determine the revealed correlation between the levels of antibodies to the basic myelin protein (Basic Myelin Protein) and the time of the appearance of spontaneous clots. Thus, it was shown that the correlations between the studied parameters of the neuro-immuno-test and the indicators of the thrombodynamics test mutually depend on the other indicators of these tests. This confirms the hypothesis that the immune system and the hemostatic system are two different sides of a single supersystem.